All variants in the OPHN1 gene

Information The variants shown are described using the NM_002547.2 transcript reference sequence.

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Effect     

Exon     

AscendingDNA change (cDNA)     

RNA change     

Protein     

Classification method     

Clinical classification     

DNA change (genomic) (hg19)     

DNA change (hg38)     

Published as     

ISCN     

DB-ID     

Variant remarks     

Reference     

ClinVar ID     

dbSNP ID     

Origin     

Segregation     

Frequency     

Re-site     

VIP     

Methylation     

Owner     
+?/. 9 c.746T>C r.(?) p.(Leu249Pro) ACMG likely pathogenic g.67430081A>G g.68210239A>G - - OPHN1_000059 - PubMed: TumienÄ— 2018 - - De novo - - - 0 - Johan den Dunnen
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